Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Tgfb1i1'

449803

Institutional Source

Beutler Lab

Gene Symbol

Tgfb1i1

Ensembl Gene

ENSMUSG00000030782

Gene Name

transforming growth factor beta 1 induced transcript 1

Synonyms

hic-5, ARA55, TSC-5

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127845963-127852884 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 127852537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 462 (*462W)

Ref Sequence

ENSEMBL: ENSMUSP00000132100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070656] [ENSMUST00000163609] [ENSMUST00000164710] [ENSMUST00000165667] [ENSMUST00000167965] [ENSMUST00000170115] [ENSMUST00000169919]

AlphaFold

Q62219

Predicted Effect

probably null
Transcript: ENSMUST00000070656
AA Change: *445W

SMART Domains

Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782
AA Change: *445W

Domain	Start	End	E-Value	Type
Pfam:Paxillin	19	183	1.7e-7	PFAM
LIM	210	261	5.18e-22	SMART
LIM	269	320	4.37e-20	SMART
LIM	328	379	3.69e-18	SMART
LIM	387	438	6.89e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163553

Predicted Effect

probably null
Transcript: ENSMUST00000163609
AA Change: *351W

SMART Domains

Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782
AA Change: *351W

Domain	Start	End	E-Value	Type
low complexity region	11	44	N/A	INTRINSIC
low complexity region	64	76	N/A	INTRINSIC
LIM	116	167	5.18e-22	SMART
LIM	175	226	4.37e-20	SMART
LIM	234	285	3.69e-18	SMART
LIM	293	344	6.89e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164710
AA Change: *484W

SMART Domains

Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782
AA Change: *484W

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	28	48	N/A	INTRINSIC
Pfam:Paxillin	49	178	1.4e-10	PFAM
low complexity region	197	209	N/A	INTRINSIC
LIM	249	300	5.18e-22	SMART
LIM	308	359	4.37e-20	SMART
LIM	367	418	3.69e-18	SMART
LIM	426	477	6.89e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165667
AA Change: *423W

SMART Domains

Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782
AA Change: *423W

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	27	37	N/A	INTRINSIC
low complexity region	83	116	N/A	INTRINSIC
low complexity region	136	148	N/A	INTRINSIC
LIM	188	239	5.18e-22	SMART
LIM	247	298	4.37e-20	SMART
LIM	306	357	3.69e-18	SMART
LIM	365	416	6.89e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166755

Predicted Effect

probably null
Transcript: ENSMUST00000167965
AA Change: *462W

SMART Domains

Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782
AA Change: *462W

Domain	Start	End	E-Value	Type
Pfam:Paxillin	34	200	7.3e-8	PFAM
LIM	227	278	5.18e-22	SMART
LIM	286	337	4.37e-20	SMART
LIM	345	396	3.69e-18	SMART
LIM	404	455	6.89e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171888

Predicted Effect

probably benign
Transcript: ENSMUST00000168825

SMART Domains

Protein: ENSMUSP00000132685
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	76	92	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC
LIM	165	216	5.18e-22	SMART
LIM	224	275	4.37e-20	SMART
LIM	283	334	3.69e-18	SMART
LIM	342	393	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170115

SMART Domains

Protein: ENSMUSP00000129958
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
Pfam:Paxillin	17	112	1.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205654

Predicted Effect

probably benign
Transcript: ENSMUST00000169919

SMART Domains

Protein: ENSMUSP00000131705
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
low complexity region	44	54	N/A	INTRINSIC

Meta Mutation Damage Score

0.9355

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal response to wire injury of femoral arteries and increased VSMC apoptosis in response to wire injury or mechanical stress. Mice homozygous for a different knock-out allele show normal platelet integrin function both in vitro and in vivo. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	Het

Other mutations in Tgfb1i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Tgfb1i1	APN	7	127,851,693 (GRCm39)	missense	probably damaging	1.00
IGL01919:Tgfb1i1	APN	7	127,847,654 (GRCm39)	splice site	probably benign
IGL01996:Tgfb1i1	APN	7	127,848,464 (GRCm39)	splice site	probably benign
IGL02527:Tgfb1i1	APN	7	127,851,734 (GRCm39)	splice site	probably benign
IGL02596:Tgfb1i1	APN	7	127,848,068 (GRCm39)	start codon destroyed	probably null	0.05
IGL03139:Tgfb1i1	APN	7	127,848,476 (GRCm39)	missense	possibly damaging	0.79
PIT4431001:Tgfb1i1	UTSW	7	127,848,353 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Tgfb1i1	UTSW	7	127,848,353 (GRCm39)	missense	probably damaging	1.00
R0114:Tgfb1i1	UTSW	7	127,848,666 (GRCm39)	missense	probably damaging	1.00
R1833:Tgfb1i1	UTSW	7	127,848,670 (GRCm39)	splice site	probably benign
R2116:Tgfb1i1	UTSW	7	127,851,977 (GRCm39)	missense	probably damaging	1.00
R2508:Tgfb1i1	UTSW	7	127,848,085 (GRCm39)	splice site	probably null
R4695:Tgfb1i1	UTSW	7	127,848,348 (GRCm39)	missense	probably damaging	1.00
R4756:Tgfb1i1	UTSW	7	127,848,571 (GRCm39)	missense	probably damaging	1.00
R4853:Tgfb1i1	UTSW	7	127,847,840 (GRCm39)	nonsense	probably null
R5024:Tgfb1i1	UTSW	7	127,847,389 (GRCm39)	start codon destroyed	probably null	0.33
R5770:Tgfb1i1	UTSW	7	127,847,719 (GRCm39)	intron	probably benign
R6105:Tgfb1i1	UTSW	7	127,847,589 (GRCm39)	splice site	probably null
R6178:Tgfb1i1	UTSW	7	127,852,517 (GRCm39)	missense	probably damaging	0.98
R6310:Tgfb1i1	UTSW	7	127,852,009 (GRCm39)	missense	probably damaging	1.00
R8790:Tgfb1i1	UTSW	7	127,852,049 (GRCm39)	missense	probably damaging	0.99
R8845:Tgfb1i1	UTSW	7	127,851,690 (GRCm39)	missense	possibly damaging	0.85
R9455:Tgfb1i1	UTSW	7	127,852,009 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCGCCCTTTGTGTGAAAAC -3'
(R):5'- AACCTAGAGCATCTTAGGGGTAG -3'

Sequencing Primer
(F):5'- GTGTGAAAACCATTTCCATGCTCAG -3'
(R):5'- AGAGCATCTTAGGGGTAGGCCTC -3'

Posted On

2016-12-20